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Literature DB >> 6434843

Carnitine metabolism and inborn errors.

Abstract

Current knowledge of the metabolic role, biosynthesis, cellular uptake, excretion and turnover of carnitine is reviewed. The clinical spectrum and possible aetiology of the primary muscle and primary systemic carnitine deficiency syndromes are considered and the various genetic defects of intermediary metabolism which can give rise to secondary carnitine deficiency are indicated.

Entities: Chemical Disease

Mesh：

Substances：
Carnitine

Year: 1984 PMID： 6434843 DOI： 10.1007/bf03047372

Source DB: PubMed Journal: J Inherit Metab Dis ISSN： 0141-8955 Impact factor: 4.982

56 in total

1. Cofactor requirements of gamma-butyrobetaine hydroxylase from rat liver.

Authors: G Lindstedt; S Lindstedt
Journal: J Biol Chem Date: 1970-08-25 Impact factor: 5.157

2. Evidence for autosomal recessive inheritance in systemic carnitine deficiency.

Authors: S Di Donato; M Rimoldi; F Cornelio; E Bottacchi; A Giunta
Journal: Ann Neurol Date: 1982-02 Impact factor: 10.422

3. Systemic carnitine deficiency simulating recurrent Reye syndrome.

Authors: A M Glasgow; G Eng; A G Engel
Journal: J Pediatr Date: 1980-05 Impact factor: 4.406

4. Characterization of carnitine acylcarnitine translocase system of heart mitochondria.

Authors: S V Pande; R Parvin
Journal: J Biol Chem Date: 1976-11-10 Impact factor: 5.157

5. Fatal lipid storage myopathy with deficiency of cytochrome-c-oxidase and carnitine. A contribution to the combined cytochemical-finestructural identification of cytochrome-c-oxidase in longterm frozen muscle.

Authors: J Müller-Höcker; D Pongratz; T Deufel; J M Trijbels; W Endres; G Hübner
Journal: Virchows Arch A Pathol Anat Histopathol Date: 1983

6. Hepatic synthesis of carnitine from protein-bound trimethyl-lysine. Lysosomal digestion of methyl-lysine-labelled asialo-fetuin.

Authors: J LaBadie; W A Dunn; N N Aronson
Journal: Biochem J Date: 1976-10-15 Impact factor: 3.857

7. In vitro analysis of hepatic carnitine biosynthesis in human systemic carnitine deficiency.

Authors: C J Rebouche; A G Engel
Journal: Clin Chim Acta Date: 1980-10-09 Impact factor: 3.786

8. Recurrent hypoglycemia associated with glutaric aciduria type II in an adult.

Authors: G Dusheiko; M C Kew; B I Joffe; J R Lewin; S Mantagos; K Tanaka
Journal: N Engl J Med Date: 1979-12-27 Impact factor: 91.245

9. Carnitine deficiency presenting as familial cardiomyopathy: a treatable defect in carnitine transport.

Authors: L J Waber; D Valle; C Neill; S DiMauro; A Shug
Journal: J Pediatr Date: 1982-11 Impact factor: 4.406

10. Carnitine deficiency: acute postpartum crisis.

Authors: C Angelini; E Govoni; M M Bragaglia; L Vergani
Journal: Ann Neurol Date: 1978-12 Impact factor: 10.422

26 in total

1. Subnormal carnitine levels and their correction in artificially fed patients from a neurological intensive care unit: a pilot study.

Authors: J Schäfer; H Reichmann
Journal: J Neurol Date: 1990-06 Impact factor: 4.849

10. Fatal infantile mitochondrial cardiomyopathy and myopathy with heterogeneous tissue expression of combined respiratory chain deficiencies.

Authors: J Müller-Höcker; H Ibel; I Paetzke; T Deufel; W Endres; B Kadenbach; J M Gokel; G Hübner
Journal: Virchows Arch A Pathol Anat Histopathol Date: 1991

Carnitine metabolism and inborn errors.

1. Cofactor requirements of gamma-butyrobetaine hydroxylase from rat liver.

2. Evidence for autosomal recessive inheritance in systemic carnitine deficiency.

3. Systemic carnitine deficiency simulating recurrent Reye syndrome.

4. Characterization of carnitine acylcarnitine translocase system of heart mitochondria.

5. Fatal lipid storage myopathy with deficiency of cytochrome-c-oxidase and carnitine. A contribution to the combined cytochemical-finestructural identification of cytochrome-c-oxidase in longterm frozen muscle.

6. Hepatic synthesis of carnitine from protein-bound trimethyl-lysine. Lysosomal digestion of methyl-lysine-labelled asialo-fetuin.

7. In vitro analysis of hepatic carnitine biosynthesis in human systemic carnitine deficiency.

8. Recurrent hypoglycemia associated with glutaric aciduria type II in an adult.

9. Carnitine deficiency presenting as familial cardiomyopathy: a treatable defect in carnitine transport.

10. Carnitine deficiency: acute postpartum crisis.

1. Subnormal carnitine levels and their correction in artificially fed patients from a neurological intensive care unit: a pilot study.

Review 2. Strategies to enhance fat utilisation during exercise.

3. Multiple respiratory chain abnormalities associated with hypertrophic cardiomyopathy and 3-methylglutaconic aciduria.

4. Carnitine deficiency with cardiomyopathy presenting as neonatal hydrops: successful response to carnitine therapy.

5. Ultrastructural aspects of the effects of L-carnitine administration on epithelial cells in the aging rat tongue.

Review 6. Biochemical relationships between Reye's and Reye's-like metabolic and toxicological syndromes.

7. Nutrition in Pediatric Cardiomyopathy.

8. Carnitine and physical exercise.

9. Dicarboxylicaciduria and secondary carnitine deficiency in glycogenosis type IV.

10. Fatal infantile mitochondrial cardiomyopathy and myopathy with heterogeneous tissue expression of combined respiratory chain deficiencies.